Journal article
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
RN Traylor, DL Bruno, T Burgess, R Wildin, A Spencer, D Ganesamoorthy, DJ Amor, M Hunter, M Caplan, JA Rosenfeld, A Theisen, BS Torchia, LG Shaffer, BC Ballif, HR Slater
Plos One | Published : 2010
Abstract
Background: Subtelomeric deletions of the long arm of chromosome 20 are rare, with only 11 described in the literature. Clinical features of individuals with these microdeletions include severe limb malformations, skeletal abnormalities, growth retardation, developmental and speech delay, mental retardation, seizures and mild, non-specific dysmorphic features. Methodology/Principal Findings: We characterized microdeletions at 20q13.33 in six individuals referred for genetic evaluation of developmental delay, mental retardation, and/or congenital anomalies. A comparison to previously reported cases of 20q13.33 microdeletion shows phenotypic overlap, with clinical features that include mental ..
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Funding Acknowledgements
As an employer of RN Traylor, JA Rosenfeld, A Theisen, BS Torchia, LG Shaffer and BC Ballif, Signature Genomic Laboratories, LLC, funded this work in part. Signature Genomic Laboratories had a role in study design, data collection and analysis, decision to publish and preparation of the manuscript. This does not alter the authors' adherence to all the PLoS ONE policies on sharing data and materials.